The European Ribosomopathy Consortium funded by the European Joint Programme on Rare Diseases

The RiboEurope consortium, which brings together eight teams of seven countries and is coordinated by Pierre-Emmanuel Gleizes (CBI), will focus on the genetics and the diagnosis of ribosomopathies.

Ribosomopathies are rare diseases that occur when genetic mutations impair the synthesis or the function of ribosomes, the essential molecular complexes that synthesize proteins in every living cell. The consortium will take advantage of the registries and the biobanks of the different partners to identify unknown genes involved in these diseases and perform new functional studies to better understand the pathological mechanisms underlying the diseases and develop diagnostic approaches. It will also foster exchange between researchers, physicians and patient organizations across the world.

The RiboEurope consortium will continue and extend the work of the EuroDBA consortium, created in 2012 to bring together clinical and biological researchers working on the ribosomopathy Diamond-Blackfan anemia (DBA).

For more information on the European Joint Programme on Rare Diseases: